Trăsături

Trăsături asociate cu IDH1

isocitrate dehydrogenase (NADP(+)) 1

Human Phenotype Ontology asociază 109 trăsături cu IDH1, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Abnormality of the wide portion of a long bone	Foarte des (80–99%)
Broad wide portion of long bone	Foarte des (80–99%)
Irregular wide portion of a long bone	Foarte des (80–99%)
Metaphyseal enchondromatosis	Foarte des (80–99%)
Smaller or shorter than typical limbs	Foarte des (80–99%)
Metaphyseal chondromatosis of femur	Des (30–79%)
Metaphyseal chondromatosis of radius	Des (30–79%)
Metaphyseal chondromatosis of tibia	Des (30–79%)
Metaphyseal chondromatosis of ulna	Des (30–79%)
Metaphyseal cupping	Des (30–79%)
Short finger bones	Des (30–79%)
Enlargement of the ankles	Uneori (5–29%)
Knock knees	Uneori (5–29%)
Large knee	Uneori (5–29%)
Left and right leg differ in length or width	Uneori (5–29%)
Madelung deformity	Uneori (5–29%)
Metaphyseal dysplasia	Uneori (5–29%)
Outward bow-leggedness	Uneori (5–29%)
Outward turned elbows	Uneori (5–29%)
Unequal size of arms	Uneori (5–29%)
Wide wrist bones	Uneori (5–29%)

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Abnormal bone maturation	Foarte des (80–99%)
Abnormal shape of cartilage	Foarte des (80–99%)
Breakdown of bone	Foarte des (80–99%)
Multiple enchondromatosis	Foarte des (80–99%)
Abnormal shape of joints	Des (30–79%)
Bone pain	Des (30–79%)
Flattened vertebrae	Des (30–79%)
Formation of new noncancerous bone on top of existing bone	Des (30–79%)
Irregular vertebral endplates	Des (30–79%)
Joint stiffness	Des (30–79%)
Scoliosis	Des (30–79%)
Chondrosarcoma	Uneori (5–29%)
Generalized decreased muscle tone	Uneori (5–29%)
Irregular iliac crest	Uneori (5–29%)
Lumbar scoliosis	Uneori (5–29%)
Multiple joint contractures	Uneori (5–29%)
Recurrent fractures	Uneori (5–29%)
Shield chest	Uneori (5–29%)
Spontaneous fracture	Uneori (5–29%)

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Abnormal globus pallidus morphology	Uneori (5–29%)
Abnormal pons morphology	Uneori (5–29%)
Abnormal septum pellucidum morphology	Uneori (5–29%)
Astrocytoma	Uneori (5–29%)
Cerebellar dysplasia	Uneori (5–29%)
Cerebral palsy	Uneori (5–29%)
Cerebral white matter atrophy	Uneori (5–29%)
Cranial nerve paralysis	Uneori (5–29%)
Delayed myelination	Uneori (5–29%)
Global developmental delay	Uneori (5–29%)
Intracranial cystic lesion	Uneori (5–29%)
Motor delay	Uneori (5–29%)
Ventriculomegaly	Uneori (5–29%)
Waddling gait	Uneori (5–29%)
Widened cerebral subarachnoid space	Uneori (5–29%)
Ependymoma	Neînregistrat
Glioblastoma multiforme	Neînregistrat

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Big calvaria	Uneori (5–29%)
Broad forehead	Uneori (5–29%)
Corners of eye widely separated	Uneori (5–29%)
Decreased volume of lip	Uneori (5–29%)
Downward slanting of the opening between the eyelids	Uneori (5–29%)
Facial asymmetry	Uneori (5–29%)
Long philtrum	Uneori (5–29%)
Receding chin	Uneori (5–29%)
Short neck	Uneori (5–29%)

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Hemangiomatosis	Foarte des (80–99%)
Strawberry mark	Foarte des (80–99%)
Visceral angiomatosis	Foarte des (80–99%)
Cavernous hemangioma of the face	Uneori (5–29%)
Collection of dilated blood vessels that forms mass	Uneori (5–29%)
Lymphangioma	Uneori (5–29%)
Secundum atrial septal defect	Uneori (5–29%)
Subarterial ventricular septal defect	Uneori (5–29%)
Twisted blood vessels	Uneori (5–29%)

Abnormality of the endocrine system

Trăsătură	Cât de frecvent apare
Enlarged thyroid gland in neck	Uneori (5–29%)
Neoplasm of the adrenal cortex	Uneori (5–29%)
Neoplasm of the parathyroid gland	Uneori (5–29%)
Noncancerous tumor in pituitary gland	Uneori (5–29%)
Parathyroid adenoma	Uneori (5–29%)

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Firm lump under the skin	Des (30–79%)
Dry skin	Uneori (5–29%)
Hyperpigmented papule	Uneori (5–29%)
Open skin sore	Uneori (5–29%)
Skin plaque	Uneori (5–29%)

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Feeding difficulties	Uneori (5–29%)
Nasogastric tube feeding in infancy	Uneori (5–29%)
Poor suck	Uneori (5–29%)
Poor swallowing	Uneori (5–29%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Faltering weight	Des (30–79%)
Growth delay	Des (30–79%)
Prenatal growth deficiency	Des (30–79%)
Short stature	Des (30–79%)

Abnormal tissue mass

Trăsătură	Cât de frecvent apare
Abnormal tissue mass	Uneori (5–29%)
Cancer of connective tissue	Uneori (5–29%)

Abnormality of blood and blood-forming tissues

Trăsătură	Cât de frecvent apare
Blood clot in vein	Foarte des (80–99%)
Acute myelomonocytic leukemia	Uneori (5–29%)

Abnormality of the breast

Trăsătură	Cât de frecvent apare
Breast cancer	Uneori (5–29%)
Wide-spaced nipples	Uneori (5–29%)

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Clouding of the lens of the eye at birth	Uneori (5–29%)
Horizontal nystagmus	Uneori (5–29%)

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Absent kidney on one side	Uneori (5–29%)
Ovarian cancer	Uneori (5–29%)

Abnormality of the immune system

Trăsătură	Cât de frecvent apare
Infection in blood stream	Uneori (5–29%)
Recurrent pneumonia	Uneori (5–29%)

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Breathing difficulties	Uneori (5–29%)
Softening of voice box tissue	Uneori (5–29%)

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Large ears	Uneori (5–29%)

Laboratory abnormality

Trăsătură	Cât de frecvent apare
D-2-hydroxyglutaric aciduria	Întotdeauna

Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.

De unde provin aceste informații

Human Phenotype Ontology, versiunea 2026-09-01: trăsăturile asociate cu IDH1 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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